Testing for Genetic Diseases

Dr. Elizabeth Pryor answers the question, What if my husband and I are both carriers for Tay-Sachs?


My husband and I are Jewish. Why are there differing opinions on when to test for Tay-Sachs disease carrier status (before vs. after conception)? If my husband and I were both carriers of Tay-Sachs, what is the probability that the baby would have the disease?


This is a tough question. The problem is, if a couple knows that they are both carriers, they worry tremendously.

The other issue is, will a couple have an abortion if they find out the baby has the disease? That is why there are differing opinions on checking for carrier status.

One option in diagnosing this disease early in pregnancy is by CVS, or chorionic villus sampling. The baby would have approximately a 25 percent chance of having the disease if you are both carriers. It is a small likelihood that a couple are both carriers. However, the chance is certainly present.

Another option would be to consult with a genetic expert. Most university settings have this type of expert and it may benefit you to visit them preconception.

The information on this Web site is designed for educational purposes only. It is not intended to be a substitute for informed medical advice or care. You should not use this information to diagnose or treat any health problems or illnesses without consulting your pediatrician or family doctor. Please consult a doctor with any questions or concerns you might have regarding your or your child's condition.

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